| 176 | 0 | 54 |
| 下载次数 | 被引频次 | 阅读次数 |
心-面-皮肤综合征3(CFC3)属于常染色体遗传病，临床表现为特殊面容、毛发稀疏、心血管系统疾病、喂养困难、全面发育迟缓等多发异常。本文报道1例CFC3病例，患者为9个月大男性婴儿，系巨大胎儿、贯通掌，存在明显的行为异常，患儿出生3个月内生长速度正常，出生3.5个月后骤然下降并出现停滞。本课题组采用全外显子组测序、和基因组拷贝数变异(CNV)分析先证者及其父母外周血DNA发现，先证者MAP2K1(NM＿002755)基因的3号外显子存在新发突变c.389A>G(p.Tyr130Cys),并采用Sanger测序对该突变进行验证。根据美国医学遗传学会基因组协会(ACMG)致病性评级该突变为致病性变异。该病例的发现丰富了由MAP2K1基因突变所致CFC3综合征表型特征。
Abstract：[1] Tidyman WE,Rauen KA.The RASopathies:developmental syndromes of Ras/MAPK pathway dysregulation[J].Curr Opin Genet Dev,2009,19:230-236.
[2] Pierpont ME,Magoulas PL,Adi S,et al.Cardio-facio-cutaneous syndrome:clinical features,diagnosis,and management guidelines[J].Pediatrics,2014,134:e1149-e1162.
[3] Dentici ML,Sarkozy A,Pantaleoni F,et al.Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations[J].Eur J Hum Genet,2009,17:733-740.
[4] Nava C,Hanna N,Michot C,et al.Cardio-facio-cutaneous and noonan syndromes due to mutations in the RAS/MAPK signaling pathway:genotype-phenotype relationships and overlap with costello syndrome[J].J Med Genet,2007,44:763-771.
[5] Emery CM,Vijayendran KG,Zipser MC,et al.MEK1 mutations confer resistance to MEK and B-RAF inhibition[J].Proc Natl Acad Sci U S A,2009,106:20411-20416.
[6] Chen J,Che L,Xu C,et al.Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy[J].Gene,2020,733:144369.
[7] Abe Y,Aoki Y,Kuriyama S,et al.Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan:findings from a nationwide epidemiological survey[J].Am J Med Genet A,2012,158A:1083-1094.
[8] 马斯禹，阮雯聪，曹宗富，等.一例NPHP1纯合缺失所致的Joubert综合征[J].生殖医学杂志，2019,7:797-804.
[9] Baraitser M,Patton MA.A Noonan-like short stature syndrome with sparse hair[J].J Med Genet,1986,23:161-164.
[10] Reynolds JF,Neri G,Herrmann JP,et al.New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement—the CFC syndrome[J].Am J Med Genet,1986,25:413-427.
[11] Siegel DH,McKenzie J,Frieden IJ,et al.Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome[J].Br J Dermatol,2011,164:521-529.
[12] Morcaldi G,Bellini T,Rossi C,et al.Lymphodysplasia and Kras mutation:a case report and literature review[J].Lymphology,2015,48:121-127.
[13] Reinker KA,Stevenson DA,Tsung A.Orthopaedic conditions in Ras/MAPK related disorders[J].J Pediatr Orthop,2011,31:599-605.
[14] Kratz CP,Rapisuwon S,Reed H,et al.Cancer in noonan,costello,cardiofaciocutaneous and LEOPARD syndromes[J].Am J Med Genet C Semin Med Genet,2011,157C:83-89.
[15] ?im?ek-Kiper P?,Alanay Y,Gülhan B,et al.Clinical and molecular analysis of RASopathies in a group of Turkish patients[J].Clin Genet,2013,83:181-186.
[16] Lepri FR,Scavelli R,Digilio MC,et al.Diagnosis of Noonan syndrome and related disorders using target next generation sequencing[J].BMC Med Genet,2014,15:14.
[17] Tidyman WE,Rauen KA.Noonan,Costello and cardio-facio-cutaneous syndromes:dysregulation of the Ras-MAPK pathway[J/OL].Expert Rev Mol Med,2008,10:e37.
[18] 王清明，陈彭亮，彭倩，等.心-面-皮肤综合征 MAP2K1基因新发变异一例[J].中华医学遗传学杂志，2020,37:567-569.
[19] 张欢欢，李牛，郁婷婷，等.Cardio-facio-cutaneous综合征2例报告并文献复习[J].临床儿科杂志，2017,35:286-289.
[20] Alfieri P,Cumbo F,Serra G,et al.Manic and depressive symptoms in children diagnosed with Noonan Syndrome[J].Brain Sci,2021,11:233.
[21] Adviento B,Corbin IL,Widjaja F,et al.Autism traits in the RASopathies[J].J Med Genet,2014,51:10-20.
基本信息:
中图分类号:R725.9
引用信息:
[1]陈鑫,蔡莹莹,毛鸿杰,等.MAP2K1基因突变所致心-面-皮肤综合征3一例[J].生殖医学杂志,2023,32(03):433-437.
基金信息:
福建省自然科学基金面上项目(2021J01424)
2023-03-15
2023-03-15